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Article

Novel compound heterozygous variants in LTBP2 associated with relative anterior microphthalmos.

European journal of ophthalmology - 1 Nov 2024

Lin Peimin, Xu Jie, Miao Ao, Lu Yi, Jiang Yongxiang, Zheng Tianyu

Abstract excerpt

PURPOSE: Relative anterior microphthalmos (RAM) is a rare congenital defect associated with severe vision impairment that is primarily caused by genetic alterations. The purpose of this study was to identify the causative genetic variants in two Chinese families with RAM with an autosomal recessive inheritance pattern. METHODS: DNA samples were obtained from two probands and their family members. Targeted...

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PMID: 38545692
DOI: 10.1177/11206721241240503

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